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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 34166

FusionGeneSummary for SLC24A2_SPIDR

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC24A2_SPIDR
Fusion gene ID: 34166
HgeneTgene
Gene symbol

SLC24A2

SPIDR

Gene ID

25769

23514

Gene namesolute carrier family 24 member 2scaffold protein involved in DNA repair
SynonymsNCKX2KIAA0146
Cytomap

9p22.1-p21.3

8q11.21

Type of geneprotein-codingprotein-coding
Descriptionsodium/potassium/calcium exchanger 2Na(+)/K(+)/Ca(2+)-exchange protein 2retinal cone Na-Ca+K exchangersolute carrier family 24 (sodium/potassium/calcium exchanger), member 2DNA repair-scaffolding proteinscaffolding protein involved in DNA repair
Modification date2018052320180523
UniProtAcc

Q9UI40

Q14159

Ensembl transtripts involved in fusion geneENST00000341998, ENST00000286344, 
ENST00000297423, ENST00000518074, 
ENST00000541342, ENST00000521214, 
ENST00000517693, ENST00000518060, 
Fusion gene scores* DoF score1 X 1 X 1=112 X 13 X 8=1248
# samples 118
** MAII scorelog2(1/1*10)=3.32192809488736log2(18/1248*10)=-2.79354912253257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC24A2 [Title/Abstract] AND SPIDR [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSLC24A2

GO:0034220

ion transmembrane transport

18166528

TgeneSPIDR

GO:0006974

cellular response to DNA damage stimulus

23509288

TgeneSPIDR

GO:0010569

regulation of double-strand break repair via homologous recombination

23754376

TgeneSPIDR

GO:0031334

positive regulation of protein complex assembly

23509288

TgeneSPIDR

GO:0070202

regulation of establishment of protein localization to chromosome

23509288

TgeneSPIDR

GO:0071479

cellular response to ionizing radiation

23509288|23754376

TgeneSPIDR

GO:0072711

cellular response to hydroxyurea

23509288

TgeneSPIDR

GO:0072757

cellular response to camptothecin

23509288


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AV723197SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000341998ENST00000297423SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000341998ENST00000518074SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000341998ENST00000541342SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000341998ENST00000521214SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000341998ENST00000517693SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000341998ENST00000518060SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000286344ENST00000297423SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000286344ENST00000518074SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000286344ENST00000541342SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000286344ENST00000521214SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000286344ENST00000517693SLC24A2chr9

19508673

+SPIDRchr8

48649761

-
intron-intronENST00000286344ENST00000518060SLC24A2chr9

19508673

+SPIDRchr8

48649761

-

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FusionProtFeatures for SLC24A2_SPIDR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC24A2

Q9UI40

SPIDR

Q14159

Critical component of the visual transduction cascade,controlling the calcium concentration of outer segments duringlight and darkness. Light causes a rapid lowering of cytosolicfree calcium in the outer segment of both retinal rod and conephotoreceptors and the light-induced lowering of calcium is causedby extrusion via this protein which plays a key role in theprocess of light adaptation. Transports 1 Ca(2+) and 1 K(+) inexchange for 4 Na(+). Plays a role in DNA double-strand break (DBS) repair viahomologous recombination (HR). Serves as a scaffolding proteinthat helps to promote the recruitment of DNA-processing enzymeslike the helicase BLM and recombinase RAD51 to site of DNA damage,and hence contributes to maintain genomic integrity.{ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:23754376}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SLC24A2_SPIDR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SLC24A2_SPIDR


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SLC24A2_SPIDR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SLC24A2_SPIDR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource